Aliases & Classifications for G6pc3 Deficiency

MalaCards integrated aliases for G6pc3 Deficiency:

Name: G6pc3 Deficiency 24
Ubiquitous Glucose-6-Phosphatase Deficiency 24

Summaries for G6pc3 Deficiency

MalaCards based summary : G6pc3 Deficiency, also known as ubiquitous glucose-6-phosphatase deficiency, is related to neutropenia and severe congenital neutropenia. An important gene associated with G6pc3 Deficiency is G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3). Affiliated tissues include neutrophil and t cells.

Wikipedia : 76 Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is... more...

GeneReviews: NBK285321

Related Diseases for G6pc3 Deficiency

Diseases related to G6pc3 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neutropenia 28.8 CXCR4 G6PC3
2 severe congenital neutropenia 10.1
3 inflammatory bowel disease 9.9
4 lymphopenia 9.9

Symptoms & Phenotypes for G6pc3 Deficiency

Drugs & Therapeutics for G6pc3 Deficiency

Search Clinical Trials , NIH Clinical Center for G6pc3 Deficiency

Genetic Tests for G6pc3 Deficiency

Anatomical Context for G6pc3 Deficiency

MalaCards organs/tissues related to G6pc3 Deficiency:

41
Neutrophil, T Cells

Publications for G6pc3 Deficiency

Articles related to G6pc3 Deficiency:

# Title Authors Year
1
G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia. ( 26479985 )
2015
2
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. ( 25391451 )
2014
3
Testicular failure in a patient with G6PC3 deficiency. ( 24796372 )
2014
4
A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. ( 23441086 )
2013
5
Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency. ( 23180359 )
2013
6
Survival and differentiation defects contribute to neutropenia in glucose-6-phosphatase-I^ (G6PC3) deficiency in a model of mouse neutrophil granulocyte differentiation. ( 23686134 )
2013
7
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. ( 23758768 )
2013
8
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. ( 20616219 )
2010
9
G6PC3 Deficiency ( 25879134 )
1993

Variations for G6pc3 Deficiency

Expression for G6pc3 Deficiency

Search GEO for disease gene expression data for G6pc3 Deficiency.

Pathways for G6pc3 Deficiency

GO Terms for G6pc3 Deficiency

Sources for G6pc3 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....